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Shunt surgery for early-onset severe hydrocephalus in methylmalonic acidemia: report on two cases and review of the literature.
OBJECT: Methylmalonic acidemia (MMA) with early-onset severe hydrocephalus is rare. In this paper, we described two cases of MMA with hydrocephalus and review the literature to elucidate the clinical features of the disease, treatment options, and follow-up results.
METHODS: The PubMed and Embase databases were searched for clinical reports on MMA with severe hydrocephalus, and two unreported cases were presented to illustrate the clinical spectrum.
RESULTS: Six cases of MMA with severe hydrocephalus were observed in the previous literature. Our two patients with severe hydrocephalus but not bulging fontanelle received a ventriculo-peritoneal shunt, and intracranial hypertension was confirmed in both cases during the operation. These patients' clinical symptoms significantly improved after the operation.
CONCLUSIONS: Intracranial hypertension can exist in early-onset severe hydrocephalus in MMA, even if the bulging anterior fontanelle is not apparent. These patients could benefit from a ventriculo-peritoneal shunt.
METHODS: The PubMed and Embase databases were searched for clinical reports on MMA with severe hydrocephalus, and two unreported cases were presented to illustrate the clinical spectrum.
RESULTS: Six cases of MMA with severe hydrocephalus were observed in the previous literature. Our two patients with severe hydrocephalus but not bulging fontanelle received a ventriculo-peritoneal shunt, and intracranial hypertension was confirmed in both cases during the operation. These patients' clinical symptoms significantly improved after the operation.
CONCLUSIONS: Intracranial hypertension can exist in early-onset severe hydrocephalus in MMA, even if the bulging anterior fontanelle is not apparent. These patients could benefit from a ventriculo-peritoneal shunt.
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